Variant report

Variant	rs11704318
Chromosome Location	chr22:23506542-23506543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:23505806..23510284-chr22:23519945..23523267,5	MCF-7	breast:
2	chr22:23504913..23506632-chr9:133736347..133738132,2	K562	blood:

Variant related genes	Relation type
ENSG00000236794	Chromatin interaction
ENSG00000186716	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11702951	1.00[AMR][1000 genomes]
rs11702988	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11703018	1.00[AMR][1000 genomes]
rs11703666	1.00[AMR][1000 genomes]
rs11703730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704087	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11704126	1.00[AMR][1000 genomes]
rs11704491	1.00[EUR][1000 genomes]
rs11704834	1.00[AMR][1000 genomes]
rs11705217	1.00[AMR][1000 genomes]
rs12157290	1.00[ASN][1000 genomes]
rs12160795	1.00[ASN][1000 genomes]
rs17853740	1.00[AMR][1000 genomes]
rs41311051	1.00[AMR][1000 genomes]
rs5996487	1.00[ASN][1000 genomes]
rs5996489	1.00[ASN][1000 genomes]
rs5996491	1.00[ASN][1000 genomes]
rs5996493	1.00[ASN][1000 genomes]
rs5996496	1.00[ASN][1000 genomes]
rs6003552	1.00[ASN][1000 genomes]
rs6003553	1.00[ASN][1000 genomes]
rs6003554	1.00[ASN][1000 genomes]
rs6003555	1.00[ASN][1000 genomes]
rs6003561	1.00[ASN][1000 genomes]
rs6003576	1.00[ASN][1000 genomes]
rs62219783	1.00[ASN][1000 genomes]
rs7285367	1.00[ASN][1000 genomes]
rs7286520	1.00[ASN][1000 genomes]
rs7286963	1.00[ASN][1000 genomes]
rs7287313	1.00[ASN][1000 genomes]
rs7287429	1.00[ASN][1000 genomes]
rs7288943	1.00[ASN][1000 genomes]
rs7289320	1.00[ASN][1000 genomes]
rs7290258	1.00[ASN][1000 genomes]
rs7290260	1.00[ASN][1000 genomes]
rs7290275	1.00[ASN][1000 genomes]
rs7290643	1.00[ASN][1000 genomes]
rs7291888	1.00[ASN][1000 genomes]
rs7292343	1.00[ASN][1000 genomes]
rs8136130	1.00[ASN][1000 genomes]
rs8137379	1.00[ASN][1000 genomes]
rs8138947	1.00[ASN][1000 genomes]
rs8139366	1.00[ASN][1000 genomes]
rs8141268	1.00[ASN][1000 genomes]
rs8142547	1.00[ASN][1000 genomes]
rs9608087	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
2	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
3	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
4	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
9	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
10	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
11	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
12	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
13	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
14	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
16	nsv531802	chr22:23046186-23627391	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	diseases
17	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
18	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
19	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
20	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
21	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
22	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
23	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
24	nsv1058604	chr22:23497533-23545751	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23488600-23506800	Weak transcription	A549	lung
2	chr22:23490400-23506800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr22:23490400-23522000	Weak transcription	Aorta	Aorta
4	chr22:23491200-23512000	Strong transcription	Right Atrium	heart
5	chr22:23492400-23509000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:23492400-23518000	Weak transcription	Esophagus	oesophagus
7	chr22:23493600-23510800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr22:23498400-23509200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:23500000-23508600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:23500000-23510800	Weak transcription	Gastric	stomach
11	chr22:23501000-23509200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr22:23501200-23509000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr22:23501400-23508600	Weak transcription	Pancreas	Pancrea
14	chr22:23504600-23506800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr22:23504600-23508800	Enhancers	Liver	Liver
16	chr22:23504800-23509400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr22:23504800-23516200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr22:23505400-23506600	Enhancers	Stomach Smooth Muscle	stomach
19	chr22:23505400-23506800	Enhancers	Brain Cingulate Gyrus	brain
20	chr22:23505400-23506800	Enhancers	Fetal Brain Male	brain
21	chr22:23505400-23506800	Enhancers	Ovary	ovary
22	chr22:23505600-23506600	Enhancers	Brain Hippocampus Middle	brain
23	chr22:23505600-23506800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr22:23505800-23506600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:23505800-23506600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr22:23505800-23506600	Enhancers	Adipose Nuclei	Adipose
27	chr22:23505800-23506600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:23505800-23506600	Enhancers	Brain Substantia Nigra	brain
29	chr22:23505800-23506800	Enhancers	Brain Anterior Caudate	brain
30	chr22:23505800-23506800	Enhancers	Brain Germinal Matrix	brain
31	chr22:23505800-23506800	Enhancers	Fetal Stomach	stomach
32	chr22:23505800-23506800	Flanking Active TSS	HepG2	liver
33	chr22:23505800-23506800	Enhancers	HSMMtube	muscle
34	chr22:23505800-23507000	Enhancers	Colonic Mucosa	Colon
35	chr22:23505800-23507000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr22:23505800-23507000	Enhancers	Lung	lung
37	chr22:23505800-23507000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr22:23506000-23506600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr22:23506000-23506600	Enhancers	Fetal Intestine Large	intestine
40	chr22:23506000-23506600	Enhancers	Right Ventricle	heart
41	chr22:23506000-23506800	Enhancers	Spleen	Spleen
42	chr22:23506200-23506600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr22:23506200-23506600	Enhancers	Colon Smooth Muscle	Colon
44	chr22:23506200-23506600	Enhancers	Stomach Mucosa	stomach
45	chr22:23506200-23506800	Enhancers	Fetal Brain Female	brain
46	chr22:23506200-23506800	Bivalent Enhancer	K562	blood
47	chr22:23506200-23507400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr22:23506200-23507400	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr22:23506400-23507000	Enhancers	Fetal Muscle Leg	muscle
50	chr22:23506400-23508400	Weak transcription	Fetal Intestine Small	intestine

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